Vitamin D and Rickets (Endocrine Development, Vol. 6)

299 Pages·2003·2.09 MB·English

by  Z. Hochberg

Vitamin D and Rickets
Endocrine Development
Vol.6
Series Editor
Martin O. Savage London
Vitamin D and Rickets
Volume Editor
Ze’ev Hochberg Haifa
66 figures, 5 in color, and 23tables, 2003
Basel·Freiburg·Paris·London·New York·
Bangalore·Bangkok·Singapore·Tokyo·Sydney
Ze’ev Hochberg,MD,DSc
Pediatric Endocrinology, Meyer Children’s Hospital
Rambam Medical Center
POB 9602, Haifa 31096, Israel
Tel./Fax (cid:1)972 4 854215
E-Mail [email protected]
Library of Congress Cataloging-in-Publication Data
Vitamin D and rickets / Ze’ev Hochberg, volume editor.
p. cm. – (Endocrine development ; v. 6)
Includes bibliographical references and index.
ISBN 3–8055–7582–3 (hbk.)
1. Rickets. 2. Vitamin D–Metabolism–Disorders. I. Hochberg, Z. II. Series.
RJ396.V55 2003
616.3(cid:2)95–dc21 2003047691
Bibliographic Indices. This publication is listed in bibliographic services, including Current Contents®and
Index Medicus.
Drug Dosage. The authors and the publisher have exerted every effort to ensure that drug selection and
dosage set forth in this text are in accord with current recommendations and practice at the time of publication.
However, in view of ongoing research, changes in government regulations, and the constant flow of information
relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for
any change in indications and dosage and for added warnings and precautions. This is particularly important
when the recommended agent is a new and/or infrequently employed drug.
All rights reserved. No part of this publication may be translated into other languages, reproduced or
utilized in any form or by any means electronic or mechanical, including photocopying, recording, microcopying,
or by any information storage and retrieval system, without permission in writing from the publisher.
© Copyright 2003 by S. Karger AG, P.O. Box, CH–4009 Basel (Switzerland)
www.karger.com
Printed in Switzerland on acid-free paper by Reinhardt Druck, Basel
ISSN 1421–7082
ISBN 3–8055–7582–3
Contents
VII Foreword
Savage, M.O. (London)
IX Preface
Hochberg, Z. (Haifa)
1 Introduction.Rickets – Past and Present
Hochberg, Z. (Haifa)
14 Normal Mineral Homeostasis.Interplay of Parathyroid Hormone and Vitamin D
Levine, M.A. (Baltimore, Md.)
34 Maternal,Fetal and Neonatal Vitamin D and Calcium
Metabolism during Pregnancy and Lactation
Weisman, Y. (Tel-Aviv)
50 Vitamin D Receptor
Yamada, S.; Shimizu, M.; Yamamoto, K. (Tokyo)
69 The Rachitic Bone
Rauch, F. (Montréal)
80 Imaging of Rachitic Bone
States, L.J. (Philadelphia, Pa.)
93 Vitamin D Deficiency Rickets
Shaw, N.J. (Birmingham)
105 Calcium-Deficiency Rickets
Thacher, T.D. (Jos)
126 Hypophosphatemic Rickets
Drezner, M.K. (Madison, Wisc.)
156 Vitamin D Biosynthesis and Vitamin D 1(cid:1)-Hydroxylase Deficiency
Miller, W.L.; Portale, A.A. (San Francisco, Calif.)
175 Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Malloy, P.J.; Feldman, D. (Stanford, Calif.)
200 Rickets in Transgenic Animals
Carmeliet, G.; Van Cromphaut, S.; Maes, C.; Raemaekers, T.; Bouillon, R. (Leuven)
220 Rickets in Developing Countries
Bereket, A. (Istanbul)
233 Prophylactic Vitamin D Supplementation
Calikoglu, A.S.; Davenport, M.L. (Chapel Hill., N.C.)
259 Consensus Development for the Supplementation of Vitamin D in
Childhood and Adolescence
Hochberg, Z. (Haifa); Bereket, A. (Istanbul); Davenport, M. (Chapel Hill, N.C.);
Delemarre-Van de Waal, H.A. (Amsterdam); De Schepper, J. (Brussels);
Levine, M.A. (Baltimore, Md.); Shaw, N. (Birmingham); Schoenau, E. (Cologne);
van Coeverden, S.C. (Amsterdam); Weisman, Y. (Tel Aviv); Zadik, Z. (Rehovot) on
behalf of the European Society for Paediatric Endocrinology (ESPE) Bone Club
283 Abbreviations
285 Subject Index
Contents VI
Foreword
This volume is a very welcome addition to the Endocrine Development
series because it brings a much needed focus to the importance of Rickets as
a continuing global health problem and presents new scientific information
underlying its pathogenesis. I am grateful to Ze’ev Hochberg and his distin-
guished cast of contributors, who are experts in clinical paediatrics, vitamin D
and calcium physiology, molecular biology and bone metabolism. The result
of their contributions is a volume of high quality, which bridges scientific
advances and clinical medicine, thus maintaining the aim of this series. The
book comprises a fascinating range of current knowledge from the original
clinical descriptions of Rickets to the latest molecular advances in vitamin D
and calcium physiology and pathophysiology.
This volume aims to be helpful to both scientists and clinicians who are
still grappling with the difficult challenge of Rickets in the 21st century.
Martin O. Savage
London, April 2003
VII
Preface
In 1650, Francis Glisson wrote his first book on rickets, ‘De Rachitide
Sive Morbo Puerili, Qui Vulgo’. In 1668, Glisson felt that so much had been
revealed in the previous 18 years that he wrote a second book on the same topic
‘A Treatise of the Rickets Being a Disease Common to Children’. Ever since
the 17th century discoveries, books on rickets have been published periodically;
the last of them being ‘Rickets’, edited by Francis Glorieux and published in
1991. In the footsteps of Glisson, I can humbly assert that so much has been
revealed in the past 12 years that the present book on the same topic contains
scores of recent revelations that shed innovative light on a long-standing theme.
Rickets is a disease of the growing child and it is illuminated in this
volume from different perspectives. The basis for understanding rickets is
rooted in the concepts of mineral metabolism and its control mechanisms in the
growing fetus, infant and child. We now understand that rickets is not only
vitamin D deficiency, but we also realize that vitamin D and calcium deficiency
are still prevalent in developing countries, as well as in affluent societies, where
children are not exposed to as much sunlight as they need. The rapid growth of
molecular biology has been exemplified in the application of subcellular
technologies to studying vitamin D and rickets in human and animal models.
Hopefully, this volume will provide an integration of important basic and
clinical advances in our understanding of rickets.
Ze’ev Hochberg, Haifa
IX
Hochberg Z (ed): Vitamin D and Rickets.
Endocr Dev. Basel, Karger, 2003, vol 6, pp 1–13
Introduction
Rickets – Past and Present
Ze’ev Hochberg
Pediatric Endocrinology, Meyer Children’s Hospital,
Rambam Medical Center, Haifa, Israel
Contents
Is Vitamin D a Vitamin or a Hormone? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
The Unit Definition of Vitamin D . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2
Rickets Is a Disease of Growing Children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2
From the 1911 1st Edition Encyclopedia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3
Historical Background. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6
Classification of Rickets (table). . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10
The name ‘rickets’is from the Old English wrickken, to twist. The more
technical medical term, rachitis, which comes from Greek, the spine, was sug-
gested by Francis Glisson in 1650, both from similarity of sound and from the
part of the body which he thought was one of the first to be affected.
At the turn of the industrial revolution, ‘the English disease’, resulting
from vitamin D deficiency, spread among city-dwelling poor children and
became endemic in cities. At the turn of the Internet revolution it appears to be
endemic again. The increase in the incidence of vitamin D deficiency is paral-
leling the primacy of breast-feeding in Western societies as human milk con-
tains only minute amounts of vitamin D. It is more prevalent in black or
children of darker complexion and in those who escape well-baby clinics. The
three main risk factors are nutritional status [1], breast-feeding and dark skin.
Is Vitamin D a Vitamin or a Hormone?
Vitamin D is not a vitamin in the strict definition because it can be produced
by exposure of the skin to sunlight. As such, animals and humans do not have a